A high-resolution copy-number variation resource for clinical and population genetics.

doi:10.1038/gim.2014.178

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

A high-resolution copy-number variation resource for clinical and population genetics.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2015

Uddin Mohammed, Thiruvahindrapuram Bhooma, Walker Susan, Wang Zhuozhi, Hu Pingzhao, Lamoureux Sylvia, Wei John, MacDonald Jeffrey R, Pellecchia Giovanna, Lu Chao, Lionel Anath C, Gazzellone Matthew J, McLaughlin John R, Brown Catherine, Andrulis Irene L, Knight Julia A, Herbrick Jo-Anne, Wintle Richard F, Ray Peter, Stavropoulos Dimitri J, Marshall Christian R, Scherer Stephen W

Abstract excerpt

PURPOSE: Chromosomal microarray analysis to assess copy-number variation has become a first-tier genetic diagnostic test for individuals with unexplained neurodevelopmental disorders or multiple congenital anomalies. More than 100 cytogenetic laboratories worldwide use the new ultra-high resolution Affymetrix CytoScan-HD array to genotype hundreds of thousands of samples per year. Our aim was to develop a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Reproducibility of Results

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Algorithms

Share to Chromosomes

Share to Congenital Abnormalities

Share to Databases, Genetic

Share to DNA Copy Number Variations

Share to Neurodevelopmental Disorders

Share to Oligonucleotide Array Sequence Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 25503493
DOI: 10.1038/gim.2014.178
PMCID: PMC4752593

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A high-resolution copy-number variation resource for clinical and population genetics.PMID 25503493Read ↗

The Cytoscan HD Array in the Diagnosis of Neurodevelopmental DisordersSemantic proximity Read ↗

Copy-number polymorphisms: mining the tip of an iceberg.Semantic proximity Read ↗

Array-based DNA diagnostics: let the revolution begin.Semantic proximity Read ↗

Population-genetic properties of differentiated human copy-number polymorphisms.Semantic proximity Read ↗

Analytical and Clinical Validity Study of FirstStep <sup>Dx</sup> PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental ConditionsSemantic proximity Read ↗

Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates.Semantic proximity Read ↗

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.Semantic proximity Read ↗

Impact of copy number variations burden on coding genome in humans using integrated high resolution arrays.Semantic proximity Read ↗

Integrated detection and population-genetic analysis of SNPs and copy number variation.Semantic proximity Read ↗

Copy-number variation and association studies of human disease.Semantic proximity Read ↗

CopyMap: localization and calling of copy number variation by joint analysis of hybridization data from multiple individuals.Semantic proximity Read ↗

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.